rs869312128

Orientation

plus

Stabilized

plus

Make rs869312128(A;A)

Make rs869312128(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

80106696

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs869312128
dbSNP (classic)	rs869312128
ClinGen	rs869312128
ebi	rs869312128
HLI	rs869312128
Exac	rs869312128
Gnomad	rs869312128
Varsome	rs869312128
LitVar	rs869312128
Map	rs869312128
PheGenI	rs869312128
Biobank	rs869312128
1000 genomes	rs869312128
hgdp	rs869312128
ensembl	rs869312128
geneview	rs869312128
scholar	rs869312128
google	rs869312128
pharmgkb	rs869312128
gwascentral	rs869312128
openSNP	rs869312128
23andMe	rs869312128
SNPshot	rs869312128
SNPdbe	rs869312128
MSV3d	rs869312128
GWAS Ctlg	rs869312128

Max Magnitude

0

ClinVar
Risk	rs869312128(A;A)
Alt	rs869312128(A;A)
Reference	Rs869312128(G;G)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80816413G>A
CLNSRC
CLNACC	RCV000209790.1,